Canonical Allele Identifier: CA2392504236

Gene: COL6A2

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46121673_46121676delinsGAGC , CM000683.2:g.46121673_46121676delinsGAGC	GRCh38
NC_000021.8:g.47541587_47541590delinsGAGC , CM000683.1:g.47541587_47541590delinsGAGC	GRCh37
NC_000021.7:g.46366015_46366018delinsGAGC	NCBI36
NG_008675.1:g.28555_28558delinsGAGC , LRG_476:g.28555_28558delinsGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397763.6:c.1521+55_1521+58delinsGAGC MANE Plus Clinical	ENSP00000380870.1:n.1521+55_1521+58delinsGAGC
ENST00000300527.9:c.1521+55_1521+58delinsGAGC MANE Select	ENSP00000300527.4:n.1521+55_1521+58delinsGAGC
ENST00000409416.6:c.1521+55_1521+58delinsGAGC	ENSP00000387115.1:n.1521+55_1521+58delinsGAGC
ENST00000300527.8:c.1521+55_1521+58delinsGAGC	ENSP00000300527.4:n.1521+55_1521+58delinsGAGC
ENST00000310645.9:c.1521+55_1521+58delinsGAGC	ENSP00000312529.5:n.1521+55_1521+58delinsGAGC
ENST00000397763.5:c.1521+55_1521+58delinsGAGC	ENSP00000380870.1:n.1521+55_1521+58delinsGAGC
ENST00000409416.5:c.1521+55_1521+58delinsGAGC	ENSP00000387115.1:n.1521+55_1521+58delinsGAGC
ENST00000413758.1:c.144+55_144+58delinsGAGC	ENSP00000395751.1:n.144+55_144+58delinsGAGC
NM_001849.3:c.1521+55_1521+58delinsGAGC , LRG_476t1:c.1521+55_1521+58delinsGAGC	NP_001840.3:n.1521+55_1521+58delinsGAGC
NM_058174.2:c.1521+55_1521+58delinsGAGC	NP_478054.2:n.1521+55_1521+58delinsGAGC
NM_058175.2:c.1521+55_1521+58delinsGAGC	NP_478055.2:n.1521+55_1521+58delinsGAGC
XM_011529451.1:c.1521+55_1521+58delinsGAGC	XP_011527753.1:n.1521+55_1521+58delinsGAGC
XM_011529452.1:c.1521+55_1521+58delinsGAGC	XP_011527754.1:n.1521+55_1521+58delinsGAGC
XR_937438.1:n.1644+55_1644+58delinsGAGC
XR_937439.1:n.1644+55_1644+58delinsGAGC
XR_937438.2:n.1651+55_1651+58delinsGAGC
XR_937439.2:n.1651+55_1651+58delinsGAGC
NM_001849.4:c.1521+55_1521+58delinsGAGC MANE Select	NP_001840.3:n.1521+55_1521+58delinsGAGC
NM_058174.3:c.1521+55_1521+58delinsGAGC MANE Plus Clinical	NP_478054.2:n.1521+55_1521+58delinsGAGC
NM_058175.3:c.1521+55_1521+58delinsGAGC	NP_478055.2:n.1521+55_1521+58delinsGAGC